Diagnostic Accuracy of Phenotype Classification in Duchenne and Becker Muscular Dystrophy Using Medical Record Data1

Jennifer G Andrews; Molly M Lamb; Kristin Conway; Natalie Street; Christina Westfield; Emma Ciafaloni; Dennis Matthews; Christopher Cunniff; Shree Pandya; Deborah J Fox; MD STARnet

doi:10.3233/JND-180306

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Diagnostic Accuracy of Phenotype Classification in Duchenne and Becker Muscular Dystrophy Using Medical Record Data1

Journal article

Peer reviewed

Diagnostic Accuracy of Phenotype Classification in Duchenne and Becker Muscular Dystrophy Using Medical Record Data1

Jennifer G Andrews, Molly M Lamb, Kristin Conway, Natalie Street, Christina Westfield, Emma Ciafaloni, Dennis Matthews, Christopher Cunniff, Shree Pandya, Deborah J Fox, …

Journal of neuromuscular diseases, Vol.5(4), pp.481-495

01/01/2018

DOI: 10.3233/JND-180306

PMCID: PMC6367719

PMID: 30320597

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https://www.ncbi.nlm.nih.gov/pmc/articles/6367719View

Open Access

Abstract

Dystrophinopathies are caused by mutations in DMD resulting in progressive muscle weakness. They are historically divided into the more severe Duchenne (DMD) and milder Becker (BMD) muscular dystrophy phenotypes. Classification is important for research and clinical care. The purpose of this study was to describe a multi-variable approach to classifying cases from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) and to assess the accuracy of the diagnostic classification scheme. We used age at loss of mobility, molecular testing results, and age at symptom onset to classify cases as having DMD or BMD and to assess sensitivity and specificity. Mobility status showed low sensitivity and high specificity for predicting DMD (65.5% and 99.3%, respectively) and BMD (62.8% and 97.7%, respectively) phenotypes. Molecular testing showed 90.9% sensitivity and 66.4% specificity for DMD; 76.3% sensitivity and 90.0% specificity for BMD. Age of onset predicted DMD with sensitivity of 73.9% and specificity of 69.0%; BMD had 99.7% specificity and 36.7% sensitivity. Mobility status, molecular test results, and age at symptom onset are important but inconsistent measures for accurately classifying individuals into DMD or BMD phenotypes. These results have implications for prognosis in newly diagnosed individuals and for classifying phenotype in clinical trials.

Adult

Databases, Factual

Humans

Male

Medical Records

Muscular Dystrophy, Duchenne - classification

Muscular Dystrophy, Duchenne - diagnosis

Phenotype

Young Adult

Details

Title: Subtitle: Diagnostic Accuracy of Phenotype Classification in Duchenne and Becker Muscular Dystrophy Using Medical Record Data1
Creators: Jennifer G Andrews - University of Arizona
Molly M Lamb - Colorado School of Public Health
Kristin Conway - University of Iowa
Natalie Street - National Center on Birth Defects and Developmental Disabilities
Christina Westfield - New York State Department of Health
Emma Ciafaloni - University of Rochester Medical Center
Dennis Matthews - University of Colorado Anschutz Medical Campus
Christopher Cunniff - Cornell University
Shree Pandya - University of Rochester Medical Center
Deborah J Fox - New York State Department of Health
MD STARnet
Resource Type: Journal article
Publication Details: Journal of neuromuscular diseases, Vol.5(4), pp.481-495
DOI: 10.3233/JND-180306
PMID: 30320597
PMCID: PMC6367719
NLM abbreviation: J Neuromuscul Dis
ISSN: 2214-3599
eISSN: 2214-3602
Grant note: U01 DD000189 / NCBDD CDC HHS U01 DD001119 / NCBDD CDC HHS CC999999 / Intramural CDC HHS U01 DD001123 / NCBDD CDC HHS
Language: English
Date published: 01/01/2018
Academic Unit: Epidemiology
Record Identifier: 9984627229802771

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